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To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy. Another name for chromosome 3, trisomy 3p (or close medical condition association). Williams syndrome is caused by a deletion of 7q11.23 26 another chromosomal duplication syndrome that has long been associated with increased susceptibility to infections, especially severe respiratory tract infections, is. 3p deletion syndrome and 3q duplication syndrome are. Deletion of tbx1 gene thought to lead to chd. Recognizable Patterns Of Malformation Obgyn Key from i0.wp.com The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and in contrast, deletions of chromosome 3p are associated with intrauterine and postnatal growth malformations and mental retardation 5. This duplication syndrome has an estimated prevalence of 1 in 64,000 births and is the reciprocal of the 8p23.1 deletion syndrome. 3p mosaic deletion duplication syndrome is one of the rarest genetic/chromosomal conditions that involve both deletion and duplication of chromosome 3, which is congenital. A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than. Here we report a in summary, to the best of our knowledge this is the first report on a patient with a ds phenotype resulting from mosaicism for a microduplication of chromosome 21q. Another name for chromosome 3, trisomy 3p (or close medical condition association).ĭepending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Thus people who have williams syndrome have only one copy of the genes in this region. Williams syndrome is caused by a deletion of 7q11.23 Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. 3P Mosaic Deletion Duplication Syndrome, Deletion 3p Syndrome Youtube - Rare association with pulmonary valve stenosis.